ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827786087
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68628
ClinVar RCV Id:
RCV000059506
RCV001381481
RCV001719807
RCV003989315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Val1338Ile
CA266114
NM_001353958.2:c.4012G>A